Canonical Allele Identifier: CA799592422

Gene: PKD2

Linked Data

• dbSNP Id: rs1279415856
• gnomAD v4: 4-88007679-C-T
• MyVariant Identifiers: chr4:g.88928831C>T (hg19) ; chr4:g.88007679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007679C>T , CM000666.2:g.88007679C>T	GRCh38
NC_000004.11:g.88928831C>T , CM000666.1:g.88928831C>T	GRCh37
NC_000004.10:g.89147855C>T	NCBI36
NG_008604.1:g.5012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.-55C>T MANE Select	ENSP00000237596.2:n.-55C>T
ENST00000237596.6:c.-55C>T	ENSP00000237596.2:n.-55C>T
NM_000297.3:c.-55C>T	NP_000288.1:n.-55C>T
XM_011532028.1:c.-55C>T	XP_011530330.1:n.-55C>T
XR_244632.2:n.41C>T
NR_156488.1:n.33C>T
XM_011532028.2:c.-55C>T	XP_011530330.1:n.-55C>T
NM_000297.4:c.-55C>T MANE Select	NP_000288.1:n.-55C>T
NR_156488.2:n.45C>T